PMID- 12239720
OWN - NLM
STAT- MEDLINE
DCOM- 20030304
LR  - 20041117
IS  - 0148-7299 (Print)
IS  - 0148-7299 (Linking)
VI  - 112
IP  - 1
DP  - 2002 Sep 15
TI  - Molecular breakpoint analysis and relevance of variable mosaicism in a woman with 
      short stature, primary amenorrhea, unilateral gonadoblastoma, and a 
      46,X,del(Y)(q11)/45,X karyotype.
PG  - 51-5
AB  - We report on a 30-year-old woman with short stature, completely female external 
      genitalia, primary amenorrhea, bilateral streak gonads, unilateral 
      gonadoblastoma, and a 46,X,del(Y)(q11)/45,X karyotype. Variable levels of 
      mosaicism were found in blood and cultivated fibroblasts from both the skin and 
      ovaries, with the percentage of the 45,X lineage never exceeding 33%. 
      Fluorescence in situ hybridization (FISH) was performed with alpha satellite 
      centromere region probes of the X and Y chromosomes (DXZ1 and DXZ3) as well as 
      with the unique-sequence, locus-specific, sex-determining region of the Y 
      chromosome gene (SRY) and the DXZ1 probes. Each signal was noted for DXZ1 on the 
      X chromosome and for the Y probes on the marker chromosome. Molecular 
      investigations with a panel of PCR markers spread over the whole Y chromosome 
      indicated a deletion breakpoint between sY 78 (interval 4) and sY 151 (interval 
      5F). No mutation of the high mobility group-box (HMG-box) of the SRY gene could 
      be found following sequence analysis. The phenotype/genotype correlation 
      demonstrates the broad phenotypic range of low-level 45,X mosaicism with the 
      resultant short stature and external female phenotype, despite the presence of 
      SRY in a high proportion of cells in various tissues.
CI  - Copyright 2002 Wiley-Liss, Inc.
FAU - Kotzot, Dieter
AU  - Kotzot D
AD  - Institute for Human Genetics, University of Leipzig, Leipzig, Germany.
FAU - Dufke, Andreas
AU  - Dufke A
FAU - Tzschach, Andreas
AU  - Tzschach A
FAU - Baeckert-Sifeddine, Iris-Tatjana
AU  - Baeckert-Sifeddine IT
FAU - Geppert, Martin
AU  - Geppert M
FAU - Holland, Heidrun
AU  - Holland H
FAU - Florus, Jobst M
AU  - Florus JM
FAU - Froster, Ursula G
AU  - Froster UG
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - United States
TA  - Am J Med Genet
JT  - American journal of medical genetics
JID - 7708900
RN  - 0 (DNA Primers)
SB  - IM
MH  - Adult
MH  - Amenorrhea/*genetics
MH  - Base Sequence
MH  - Body Height/*genetics
MH  - Chromosome Banding
MH  - DNA Primers
MH  - Female
MH  - Gonadoblastoma/*genetics
MH  - Humans
MH  - Immunohistochemistry
MH  - *Karyotyping
MH  - *Mosaicism
EDAT- 2002/09/20 10:00
MHDA- 2003/03/05 04:00
CRDT- 2002/09/20 10:00
PHST- 2002/09/20 10:00 [pubmed]
PHST- 2003/03/05 04:00 [medline]
PHST- 2002/09/20 10:00 [entrez]
AID - 10.1002/ajmg.10612 [doi]
PST - ppublish
SO  - Am J Med Genet. 2002 Sep 15;112(1):51-5. doi: 10.1002/ajmg.10612.